CGI-58_ABHD5_ABHD4

Relationship

Family: CGI-58_ABHD5_ABHD4

Block: X

Parent Family: Abhydrolase_6

Comment

Comparative gene identification 58 (CGI-58)/Alpha Beta Hydrolase Domain 5 (ABHD5) NCIE2 functions as an acyltransferase for the synthesis of phosphatidic acid, the major intermediate in membrane and storage lipid biosynthesis. It also functions as a coactivator of adipocyte triglyceride lipase (ATGL, or PNPLA2) (Ghosh et al., 2008) It also interacts with PNPLA9 (Guerrero-Santoro et al). CGI-58 is regulated by its interaction with perilipin 1 (PLIN1) localized on the lipid droplet (LD), and its release is controlled by phosphorylation. Once lipolysis is stimulated by catecholamines, protein kinase A (PKA)-mediated phosphorylation enables the dissociation of the CGI-58/PLIN1 complex, thereby recruiting adipose triglyceride lipase (ATGL) and hormone-sensitive lipase (HSL) to initiate fatty acid release. Mutations in CGI-58 were found in Chanarin-Dorfman syndrome. (from OMIM) By examining the critical region for triglyceride storage disease with impaired long-chain fatty acid oxidation, a rare autosomal recessive form of NCIE (242100), on chromosome 3p21, Lefevre et al.(2001) identified several candidate genes, one of which was designated comparative gene identification-58 (human-ABHD5). Lefevre et al. (2001) identified 8 different haplotypes and mutations in the human-ABHD5 gene. The disease locus was designated NCIE2. ABHD5_CGI58 is an activator of the adipose triglyceride lipase (TAG lipase, PNPLA2.patatin-like phospholipase domain-containing). ABHD5 CGI-58 proteins orthologs from plants and yeast are weak triglyceride and phospholipid hydrolases. In plants it interacts with peroxisomal transport protein PXA1. PNPLA3/Adiponutrin and ATGL(PNPLA2 patatin) compete for interaction with ABHD5 (Yang et al.). Comparative gene identification 58 (CGI-58)/Alpha Beta Hydrolase Domain 5 (ABHD5) lacks lysophosphatidic acid acyltransferase activity (McMahon et al.). Disruption of the Arabidopsis CGI-58 homologue produces Chanarin-Dorfman-like lipid droplet accumulation in plants (James et al.).ABHD5 is in fact a protease and hydrolyses HDAC4. Through the production of an amino-terminal polypeptide of HDAC4 (HDAC4-NT) in heart, ABHD5 inhibits MEF2-dependent gene expression and thereby controls glucose handling (Jabessa et al. 2019). Two highly conserved ABHD5 amino acids (R299 and G328) enabled ABHD4 (ABHD4 N303R/S332G) to activate ATGL. The corresponding ABHD5 mutations (ABHD5 R299N and ABHD5 G328S) selectively disrupted lipolysis without affecting ATGL lipid droplet translocation or ABHD5 interactions with perilipin proteins and ABHD5 ligands Sanders et al. In Drosophila Pummelig (Puml,colloquial German for chubby) pummelig deletion mutants (puml1) (Hehlert et al.) Pummelig release fatty acids from phosphatidic acid (PA), N-acylphosphatidylethanolamine (NAPE) and phosphatidylglycerol (PG) but does not hydrolyse TG, diolen or monoolein. Pummelig localizes to lipid droplets, mitochondria, and peroxisomes. CIDEC regulates the enzymatic activity of adipose triglyceride lipase via interacting with its activator, CGI-58. Main substrates include: ABHD5 arachidonoyl-CoA, oleoyl-CoA, 1-oleoyl-lysophosphatidic, triacylglycerols

Database

Interpro : No interpro

PIRSF : No PIRSF

Pdoc : No Pdoc

Pfam : PF12697 Abhydrolase_6

Prints : No Print

EC Number : No EC Number

Sequences

Peptide in Fasta
Nucleotide in Fasta
Alignment with Multalin Text only
Seed alignment with MAFFT No colour
Alignment with MAFFT No colour
Dendrogram The dnd file

Structures (1)

Genes Proteins in CGI-58_ABHD5_ABHD4 family (175)

Fragments of genes in CGI-58_ABHD5_ABHD4 family (10)

Structures in CGI-58_ABHD5_ABHD4 family (1)

Substrates in CGI-58_ABHD5_ABHD4 family (3)

Inhibitors in CGI-58_ABHD5_ABHD4 family (10)

References (73)

Title : ABHD4 regulates adipocyte differentiation in vitro but does not affect adipose tissue lipid metabolism in mice - Seramur_2023_J.Lipid.Res__100405
Author(s) : Seramur ME , Sink S , O'Brien Cox A , Furdui CM , Key CC
Ref : J Lipid Res , :100405 , 2023
PubMedID: 37352974
Gene_locus related to this paper: human-ABHD4 , mouse-abhd4

Title : Unmasking Crucial Residues in Adipose Triglyceride Lipase (ATGL) for Co-Activation with Comparative Gene Identification-58 (CGI-58) - Kulminskaya_2023_J.Lipid.Res__100491
Author(s) : Kulminskaya N , Rodriguez Gamez CF , Hofer P , Cerk IK , Dubey N , Viertlmayr R , Sagmeister T , Pavkov-Keller T , Zechner R , Oberer M
Ref : J Lipid Res , :100491 , 2023
PubMedID: 38135254
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : ATG14 plays a critical role in hepatic lipid droplet homeostasis - Huang_2023_Metabolism_148_155693
Author(s) : Huang M , Zhang Y , Park J , Chowdhury K , Xu J , Lu A , Wang L , Zhang W , Ekser B , Yu L , Dong XC
Ref : Metabolism , 148 :155693 , 2023
PubMedID: 37741434
Gene_locus related to this paper: human-ABHD5

Title : The lipase cofactor CGI58 controls placental lipolysis - Guerrero-Santoro_2023_JCI.Insight_8_e168717
Author(s) : Guerrero-Santoro J , Morizane M , Oh SY , Mishima T , Goff JP , Bildirici I , Sadovsky E , Ouyang Y , Tyurin VA , Tyurina YY , Kagan VE , Sadovsky Y
Ref : JCI Insight , 8 :e168717 , 2023
PubMedID: 37212279
Gene_locus related to this paper: human-ABHD5

Title : Aging reduces ABHD5 protein content in the adipose tissue of mice: The reversal effect of exercise - Bricola_2022_Cell.Biochem.Funct__
Author(s) : Bricola RS , Cordeiro AV , Crisol BM , Braga RR , de Melo DG , Rocha MB , Gaspar RC , Nakandakari S , Silva VRR , Anaruma CP , Katashima CK , Canciglieri RDS , Munoz VR , Pavan ICB , Pinto AP , Simabuco FM , Silva A , Moura LP , Pauli JR , Cintra DE , Ropelle ER
Ref : Cell Biochemistry & Function , : , 2022
PubMedID: 36515301
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : Human CIDEC transgene improves lipid metabolism and protects against high-fat diet-induced glucose intolerance in mice - Gupta_2022_J.Biol.Chem__
Author(s) : Gupta A , Balakrishnan B , Karki S , Slayton M , Jash S , Banerjee S , Grahn THM , Jambunathan S , Disney S , Hussein H , Kong D , Lowell BB , Natarajan P , Reddy UK , Gokce N , Sharma VM , Puri V
Ref : Journal of Biological Chemistry , :102347 , 2022
PubMedID: 35963433
Gene_locus related to this paper: human-ABHD5

Title : ABHD5-A Regulator of Lipid Metabolism Essential for Diverse Cellular Functions - Schratter_2022_Metabolites_12_1015
Author(s) : Schratter M , Lass A , Radner FPW
Ref : Metabolites , 12 :1015 , 2022
PubMedID: 36355098
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : Improved Stability of Human CGI-58 Induced by Phosphomimetic S237E Mutation - Llamas-Garcia_2022_ACS.Omega_7_12643
Author(s) : Llamas-Garcia ML , Paez-Perez ED , Benitez-Cardoza CG , Montero-Moran GM , Lara-Gonzalez S
Ref : ACS Omega , 7 :12643 , 2022
PubMedID: 35474805
Gene_locus related to this paper: human-ABHD5

Title : Structural and functional insights into ABHD5, a ligand-regulated lipase co-activator - Tseng_2022_Sci.Rep_12_2565
Author(s) : Tseng YY , Sanders MA , Zhang H , Zhou L , Chou CY , Granneman JG
Ref : Sci Rep , 12 :2565 , 2022
PubMedID: 35173175
Gene_locus related to this paper: human-ABHD5

Title : ABHD4-Regulating RNA Panel: Novel Biomarkers in Acute Coronary Syndrome Diagnosis - Agwa_2021_Cells_10_
Author(s) : Agwa SHA , Elzahwy SS , El Meteini MS , Elghazaly H , Saad M , Abd Elsamee AM , Shamekh R , Matboli M
Ref : Cells , 10 : , 2021
PubMedID: 34208452
Gene_locus related to this paper: human-ABHD4

Title : Cardiac-specific CGI-58 deficiency activates the ER stress pathway to promote heart failure in mice - Xie_2021_Cell.Death.Dis_12_1003
Author(s) : Xie X , Tie YF , Lai S , Zhang YL , Li HH , Liu Y
Ref : Cell Death Dis , 12 :1003 , 2021
PubMedID: 34702801

Title : ABHD5 suppresses cancer cell anabolism through lipolysis-dependent activation of the AMPK\/mTORC1 pathway - Chen_2020_J.Biol.Chem_296_100104
Author(s) : Chen G , Zhou G , Lotvola A , Granneman JG , Wang J
Ref : Journal of Biological Chemistry , 296 :100104 , 2020
PubMedID: 33219129
Gene_locus related to this paper: human-ABHD5

Title : ABHD4-dependent developmental anoikis safeguards the embryonic brain - Laszlo_2020_Nat.Commun_11_4363
Author(s) : Laszlo ZI , Lele Z , Zoldi M , Miczan V , Mogor F , Simon GM , Mackie K , Kacskovics I , Cravatt BF , Katona I
Ref : Nat Commun , 11 :4363 , 2020
PubMedID: 32868797
Gene_locus related to this paper: human-ABHD4 , mouse-abhd4

Title : CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis - Yu_2020_Adv.Exp.Med.Biol_1276_197
Author(s) : Yu L , Li Y , Grise A , Wang H
Ref : Advances in Experimental Medicine & Biology , 1276 :197 , 2020
PubMedID: 32705602
Gene_locus related to this paper: human-ABHD5

Title : Western diet induces severe nonalcoholic steatohepatitis, ductular reaction, and hepatic fibrosis in liver CGI-58 knockout mice - Yang_2020_Sci.Rep_10_4701
Author(s) : Yang P , Wang Y , Tang W , Sun W , Ma Y , Lin S , Jing J , Jiang L , Shi H , Song Z , Yu L
Ref : Sci Rep , 10 :4701 , 2020
PubMedID: 32170127
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : Macrophage ABHD5 Suppresses NFkappaB-Dependent Matrix Metalloproteinase Expression and Cancer Metastasis - Shang_2019_Cancer.Res_79_5513
Author(s) : Shang S , Ji X , Zhang L , Chen J , Li C , Shi R , Xiang W , Kang X , Zhang D , Yang F , Dai R , Chen P , Chen S , Chen Y , Li Y , Miao H
Ref : Cancer Research , 79 :5513 , 2019
PubMedID: 31439546
Gene_locus related to this paper: human-ABHD5

Title : Oncogenic role of ABHD5 in endometrial cancer - Zhou_2019_Cancer.Manag.Res_11_2139
Author(s) : Zhou Q , Wang F , Zhou K , Huang K , Zhu Q , Luo X , Yu J , Shi Z
Ref : Cancer Manag Res , 11 :2139 , 2019
PubMedID: 30936746
Gene_locus related to this paper: human-ABHD5

Title : The lipid droplet-associated protein ABHD5 protects the heart through proteolysis of HDAC4 - Jebessa_2019_Nat.Metab_1_1157
Author(s) : Jebessa ZH , Shanmukha Kumar D , Dewenter M , Lehmann LH , Xu C , Schreiter F , Siede D , Gong XM , Worst BC , Federico G , Sauer SW , Fischer T , Wechselberger L , Muller OJ , Sossalla S , Dieterich C , Most P , Grone HJ , Moro C , Oberer M , Haemmerle G , Katus HA , Tyedmers J , Backs J
Ref : Nat Metab , 1 :1157 , 2019
PubMedID: 31742248
Gene_locus related to this paper: human-ABHD5

Title : Dynamic interactions of ABHD5 with PNPLA3 regulate triacylglycerol metabolism in brown adipocytes - Yang_2019_Nat.Metab_1_560
Author(s) : Yang A , Mottillo EP , Mladenovic-Lucas L , Zhou L , Granneman JG
Ref : Nat Metab , 1 :560 , 2019
PubMedID: 31497752
Gene_locus related to this paper: human-ABHD5

Title : The alpha\/beta-hydrolase domain-containing 4- and 5-related phospholipase Pummelig controls energy storage in Drosophila - Hehlert_2019_J.Lipid.Res_60_1365
Author(s) : Hehlert P , Hofferek V , Heier C , Eichmann TO , Riedel D , Rosenberg J , Takacs A , Nagy HM , Oberer M , Zimmermann R , Kuhnlein RP
Ref : J Lipid Res , 60 :1365 , 2019
PubMedID: 31164391
Gene_locus related to this paper: drome-CG1882

Title : ABHD5 stimulates PNPLA1-mediated omega-O-acylceramide biosynthesis essential for a functional skin permeability barrier - Kien_2018_J.Lipid.Res_59_2360
Author(s) : Kien B , Grond S , Haemmerle G , Lass A , Eichmann TO , Radner FPW
Ref : J Lipid Res , 59 :2360 , 2018
PubMedID: 30361410
Gene_locus related to this paper: human-ABHD5

Title : The Expression Pattern of PLIN2 in Differentiated Adipocytes from Qinchuan Cattle Analysis of Its Protein Structure and Interaction with CGI-58 - Li_2018_Int.J.Mol.Sci_19_
Author(s) : Li P , Wang Y , Zhang L , Ning Y , Zan L
Ref : Int J Mol Sci , 19 : , 2018
PubMedID: 29723991

Title : Lipolysis in Brown Adipocytes Is Not Essential for Cold-Induced Thermogenesis in Mice - Shin_2017_Cell.Metab_26_764
Author(s) : Shin H , Ma Y , Chanturiya T , Cao Q , Wang Y , Kadegowda AKG , Jackson R , Rumore D , Xue B , Shi H , Gavrilova O , Yu L
Ref : Cell Metab , 26 :764 , 2017
PubMedID: 28988822

Title : Molecular Basis of ABHD5 Lipolysis Activation - Sanders_2017_Sci.Rep_7_42589
Author(s) : Sanders MA , Zhang H , Mladenovic L , Tseng YY , Granneman JG
Ref : Sci Rep , 7 :42589 , 2017
PubMedID: 28211464
Gene_locus related to this paper: mouse-abhd4 , mouse-abhd5

Title : Critical roles for alpha\/beta hydrolase domain 5 (ABHD5)\/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond - Brown_2017_Biochim.Biophys.Acta_1862_1233
Author(s) : Brown AL , Mark Brown J
Ref : Biochimica & Biophysica Acta , 1862 :1233 , 2017
PubMedID: 28827091
Gene_locus related to this paper: human-ABHD5

Title : Macrophage ABHD5 promotes colorectal cancer growth by suppressing spermidine production by SRM - Miao_2016_Nat.Commun_7_11716
Author(s) : Miao H , Ou J , Peng Y , Zhang X , Chen Y , Hao L , Xie G , Wang Z , Pang X , Ruan Z , Li J , Yu L , Xue B , Shi H , Shi C , Liang H
Ref : Nat Commun , 7 :11716 , 2016
PubMedID: 27189574

Title : CGI-58\/ABHD5 is phosphorylated on Ser239 by protein kinase A: control of subcellular localization - Sahu-Osen_2015_J.Lipid.Res_56_109
Author(s) : Sahu-Osen A , Montero-Moran G , Schittmayer M , Fritz K , Dinh A , Chang YF , McMahon D , Boeszoermenyi A , Cornaciu I , Russell D , Oberer M , Carman GM , Birner-Gruenberger R , Brasaemle DL
Ref : J Lipid Res , 56 :109 , 2015
PubMedID: 25421061
Gene_locus related to this paper: human-ABHD5

Title : The Causative Gene in Chanaran Dorfman Syndrome Regulates Lipid Droplet Homeostasis in C. elegans - Xie_2015_PLoS.Genet_11_e1005284
Author(s) : Xie M , Roy R
Ref : PLoS Genet , 11 :e1005284 , 2015
PubMedID: 26083785
Gene_locus related to this paper: caeel-C37H5.2 , caeel-C37H5.3

Title : ABHD4 regulates multiple classes of N-acyl phospholipids in the mammalian central nervous system - Lee_2015_Biochemistry_54_2539
Author(s) : Lee HC , Simon GM , Cravatt BF
Ref : Biochemistry , 54 :2539 , 2015
PubMedID: 25853435
Gene_locus related to this paper: human-ABHD4

Title : The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function - Radner_2014_Biochim.Biophys.Acta_1841_409
Author(s) : Radner FP , Fischer J
Ref : Biochimica & Biophysica Acta , 1841 :409 , 2014
PubMedID: 23928127

Title : Comparative gene identification 58\/alpha\/beta hydrolase domain 5 lacks lysophosphatidic acid acyltransferase activity - McMahon_2014_J.Lipid.Res_55_1750
Author(s) : McMahon D , Dinh A , Kurz D , Shah D , Han GS , Carman GM , Brasaemle DL
Ref : J Lipid Res , 55 :1750 , 2014
PubMedID: 24879803
Gene_locus related to this paper: human-ABHD5

Title : Comparative gene identification-58 (CGI-58) promotes autophagy as a putative lysophosphatidylglycerol acyltransferase - Zhang_2014_J.Biol.Chem_289_33044
Author(s) : Zhang J , Xu D , Nie J , Han R , Zhai Y , Shi Y
Ref : Journal of Biological Chemistry , 289 :33044 , 2014
PubMedID: 25315780
Gene_locus related to this paper: human-ABHD5

Title : The alpha\/beta hydrolase CGI-58 and peroxisomal transport protein PXA1 Coregulate lipid homeostasis and signaling in Arabidopsis - Park_2013_Plant.Cell_25_1726
Author(s) : Park S , Gidda SK , James CN , Horn PJ , Khuu N , Seay DC , Keereetaweep J , Chapman KD , Mullen RT , Dyer JM
Ref : Plant Cell , 25 :1726 , 2013
PubMedID: 23667126
Gene_locus related to this paper: arath-LPAAT

Title : CGI-58\/ABHD5-derived signaling lipids regulate systemic inflammation and insulin action - Lord_2012_Diabetes_61_355
Author(s) : Lord CC , Betters JL , Ivanova PT , Milne SB , Myers DS , Madenspacher J , Thomas G , Chung S , Liu M , Davis MA , Lee RG , Crooke RM , Graham MJ , Parks JS , Brasaemle DL , Fessler MB , Brown HA , Brown JM
Ref : Diabetes , 61 :355 , 2012
PubMedID: 22228714
Gene_locus related to this paper: human-ABHD5

Title : Distinct roles for alpha-beta hydrolase domain 5 (ABHD5\/CGI-58) and adipose triglyceride lipase (ATGL\/PNPLA2) in lipid metabolism and signaling - Lord_2012_Adipocyte_1_123
Author(s) : Lord CC , Brown JM
Ref : Adipocyte , 1 :123 , 2012
PubMedID: 23145367
Gene_locus related to this paper: human-ABHD5

Title : Recent insights into the structure and function of comparative gene identification-58 - Oberer_2011_Curr.Opin.Lipidol_22_149
Author(s) : Oberer M , Boeszoermenyi A , Nagy HM , Zechner R
Ref : Curr Opin Lipidol , 22 :149 , 2011
PubMedID: 21494142
Gene_locus related to this paper: human-ABHD5

Title : CGI-58 knockdown in mice causes hepatic steatosis but prevents diet-induced obesity and glucose intolerance - Brown_2010_J.Lipid.Res_51_3306
Author(s) : Brown JM , Betters JL , Lord C , Ma Y , Han X , Yang K , Alger HM , Melchior J , Sawyer J , Shah R , Wilson MD , Liu X , Graham MJ , Lee R , Crooke R , Shulman GI , Xue B , Shi H , Yu L
Ref : J Lipid Res , 51 :3306 , 2010
PubMedID: 20802159
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : Disruption of the Arabidopsis CGI-58 homologue produces Chanarin-Dorfman-like lipid droplet accumulation in plants - James_2010_Proc.Natl.Acad.Sci.U.S.A_107_17833
Author(s) : James CN , Horn PJ , Case CR , Gidda SK , Zhang D , Mullen RT , Dyer JM , Anderson RG , Chapman KD
Ref : Proc Natl Acad Sci U S A , 107 :17833 , 2010
PubMedID: 20876112
Gene_locus related to this paper: arath-LPAAT

Title : CGI-58\/ABHD5 is a coenzyme A-dependent lysophosphatidic acid acyltransferase - Montero-Moran_2010_J.Lipid.Res_51_709
Author(s) : Montero-Moran G , Caviglia JM , McMahon D , Rothenberg A , Subramanian V , Xu Z , Lara-Gonzalez S , Storch J , Carman GM , Brasaemle DL
Ref : J Lipid Res , 51 :709 , 2010
PubMedID: 19801371

Title : Differential control of ATGL-mediated lipid droplet degradation by CGI-58 and G0S2 - Lu_2010_Cell.Cycle_9_2719
Author(s) : Lu X , Yang X , Liu J
Ref : Cell Cycle , 9 :2719 , 2010
PubMedID: 20676045

Title : Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58) - Radner_2010_J.Biol.Chem_285_7300
Author(s) : Radner FP , Streith IE , Schoiswohl G , Schweiger M , Kumari M , Eichmann TO , Rechberger G , Koefeler HC , Eder S , Schauer S , Theussl HC , Preiss-Landl K , Lass A , Zimmermann R , Hoefler G , Zechner R , Haemmerle G
Ref : Journal of Biological Chemistry , 285 :7300 , 2010
PubMedID: 20023287
Gene_locus related to this paper: mouse-abhd5

Title : Identification of a novel splicing isoform of murine CGI-58 - Yang_2010_FEBS.Lett_584_903
Author(s) : Yang X , Lu X , Liu J
Ref : FEBS Letters , 584 :903 , 2010
PubMedID: 20083112
Gene_locus related to this paper: mouse-abhd5

Title : Crucial role of CGI-58\/alpha\/beta hydrolase domain-containing protein 5 in lipid metabolism - Yamaguchi_2010_Biol.Pharm.Bull_33_342
Author(s) : Yamaguchi T
Ref : Biol Pharm Bull , 33 :342 , 2010
PubMedID: 20190389

Title : The N-terminal region of comparative gene identification-58 (CGI-58) is important for lipid droplet binding and activation of adipose triglyceride lipase - Gruber_2010_J.Biol.Chem_285_12289
Author(s) : Gruber A , Cornaciu I , Lass A , Schweiger M , Poeschl M , Eder C , Kumari M , Schoiswohl G , Wolinski H , Kohlwein SD , Zechner R , Zimmermann R , Oberer M
Ref : Journal of Biological Chemistry , 285 :12289 , 2010
PubMedID: 20164531

Title : ABHD5\/CGI-58 facilitates the assembly and secretion of apolipoprotein B lipoproteins by McA RH7777 rat hepatoma cells - Caviglia_2009_Biochim.Biophys.Acta_1791_198
Author(s) : Caviglia JM , Sparks JD , Toraskar N , Brinker AM , Yin TC , Dixon JL , Brasaemle DL
Ref : Biochimica & Biophysica Acta , 1791 :198 , 2009
PubMedID: 19211039

Title : Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase - Yamaguchi_2009_Biochim.Biophys.Acta_1791_519
Author(s) : Yamaguchi T , Osumi T
Ref : Biochimica & Biophysica Acta , 1791 :519 , 2009
PubMedID: 19061969
Gene_locus related to this paper: human-ABHD5

Title : Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase\/PNPLA2 or CGI-58\/ABHD5 - Schweiger_2009_Am.J.Physiol.Endocrinol.Metab_297_E289
Author(s) : Schweiger M , Lass A , Zimmermann R , Eichmann TO , Zechner R
Ref : American Journal of Physiology Endocrinol Metab , 297 :E289 , 2009
PubMedID: 19401457
Gene_locus related to this paper: human-ABHD5

Title : Reduced hepatic expression of adipose tissue triglyceride lipase and CGI-58 may contribute to the development of non-alcoholic fatty liver disease in patients with insulin resistance -
Author(s) : Kato M , Higuchi N , Enjoji M
Ref : Scand J Gastroenterol , 43 :1018 , 2008
PubMedID: 19086170

Title : CGI-58 is an alpha\/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes - Akiyama_2008_Am.J.Pathol_173_1349
Author(s) : Akiyama M , Sakai K , Takayama C , Yanagi T , Yamanaka Y , McMillan JR , Shimizu H
Ref : American Journal of Pathology , 173 :1349 , 2008
PubMedID: 18832586

Title : CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid - Ghosh_2008_J.Biol.Chem_283_24525
Author(s) : Ghosh AK , Ramakrishnan G , Chandramohan C , Rajasekharan R
Ref : Journal of Biological Chemistry , 283 :24525 , 2008
PubMedID: 18606822
Gene_locus related to this paper: human-ABHD5

Title : A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome -
Author(s) : Ben Selma Z , Yilmaz S , Schischmanoff PO , Blom A , Ozogul C , Laroche L , Caux F
Ref : Journal of Investigative Dermatology , 127 :2273 , 2007
PubMedID: 17495960
Gene_locus related to this paper: human-ABHD5

Title : CGI-58 facilitates the mobilization of cytoplasmic triglyceride for lipoprotein secretion in hepatoma cells - Brown_2007_J.Lipid.Res_48_2295
Author(s) : Brown JM , Chung S , Das A , Shelness GS , Rudel LL , Yu L
Ref : J Lipid Res , 48 :2295 , 2007
PubMedID: 17664529

Title : CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation - Yamaguchi_2007_J.Lipid.Res_48_1078
Author(s) : Yamaguchi T , Omatsu N , Morimoto E , Nakashima H , Ueno K , Tanaka T , Satouchi K , Hirose F , Osumi T
Ref : J Lipid Res , 48 :1078 , 2007
PubMedID: 17308334

Title : Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome - Lass_2006_Cell.Metab_3_309
Author(s) : Lass A , Zimmermann R , Haemmerle G , Riederer M , Schoiswohl G , Schweiger M , Kienesberger P , Strauss JG , Gorkiewicz G , Zechner R
Ref : Cell Metab , 3 :309 , 2006
PubMedID: 16679289
Gene_locus related to this paper: human-ABHD5

Title : Fat breakdown: a function for CGI-58 (ABHD5) provides a new piece of the puzzle - Yen_2006_Cell.Metab_3_305
Author(s) : Yen CL , Farese RV, Jr.
Ref : Cell Metab , 3 :305 , 2006
PubMedID: 16679288
Gene_locus related to this paper: human-ABHD5

Title : Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene -
Author(s) : Solomon C , Bernier L , Germain L , Dufour R , Davignon J
Ref : Arch Dermatol , 142 :402 , 2006
PubMedID: 16549731
Gene_locus related to this paper: human-ABHD5

Title : Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease -
Author(s) : Schleinitz N , Fischer J , Sanchez A , Veit V , Harle JR , Pelissier JF
Ref : Arch Dermatol , 141 :798 , 2005
PubMedID: 15967942
Gene_locus related to this paper: human-ABHD5

Title : Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome - Pujol_2005_Br.J.Dermatol_153_838
Author(s) : Pujol RM , Gilaberte M , Toll A , Florensa L , Lloreta J , Gonzalez-Ensenat MA , Fischer J , Azon A
Ref : Br J Dermatol , 153 :838 , 2005
PubMedID: 16181472
Gene_locus related to this paper: human-ABHD5

Title : CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome - Yamaguchi_2004_J.Biol.Chem_279_30490
Author(s) : Yamaguchi T , Omatsu N , Matsushita S , Osumi T
Ref : Journal of Biological Chemistry , 279 :30490 , 2004
PubMedID: 15136565
Gene_locus related to this paper: ratno-abhd5 , human-ABHD5

Title : CGI-58\/ABHD5 gene is mutated in Dorfman-Chanarin syndrome -
Author(s) : Caux F , Selma ZB , Laroche L , Prud'homme JF , Fischer J
Ref : American Journal of Medicine Genet A , 129A :214 , 2004
PubMedID: 15316960
Gene_locus related to this paper: human-ABHD5

Title : Perilipin A mediates the reversible binding of CGI-58 to lipid droplets in 3T3-L1 adipocytes - Subramanian_2004_J.Biol.Chem_279_42062
Author(s) : Subramanian V , Rothenberg A , Gomez C , Cohen AW , Garcia A , Bhattacharyya S , Shapiro L , Dolios G , Wang R , Lisanti MP , Brasaemle DL
Ref : Journal of Biological Chemistry , 279 :42062 , 2004
PubMedID: 15292255
Gene_locus related to this paper: mouse-abhd5

Title : Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation - Srinivasan_2004_J.Pediatr_144_662
Author(s) : Srinivasan R , Hadzic N , Fischer J , Knisely AS
Ref : J Pediatr , 144 :662 , 2004
PubMedID: 15127008
Gene_locus related to this paper: human-ABHD5

Title : Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome - Akiyama_2003_J.Invest.Dermatol_121_1029
Author(s) : Akiyama M , Sawamura D , Nomura Y , Sugawara M , Shimizu H
Ref : Journal of Investigative Dermatology , 121 :1029 , 2003
PubMedID: 14708602
Gene_locus related to this paper: human-ABHD5

Title : Mutations in CGI-58, the gene encoding a new protein of the esterase\/lipase\/thioesterase subfamily, in Chanarin-Dorfman syndrome - Lefevre_2001_Am.J.Hum.Genet_69_1002
Author(s) : Lefevre C , Jobard F , Caux F , Bouadjar B , Karaduman A , Heilig R , Lakhdar H , Wollenberg A , Verret JL , Weissenbach J , Ozguc M , Lathrop M , Prud'homme JF , Fischer J
Ref : American Journal of Human Genetics , 69 :1002 , 2001
PubMedID: 11590543
Gene_locus related to this paper: human-ABHD5

Title : Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features -
Author(s) : Pena-Penabad C , Almagro M , Martinez W , Garcia-Silva J , Del Pozo J , Yebra MT , Sanchez-Manzano C , Fonseca E
Ref : Br J Dermatol , 144 :430 , 2001
PubMedID: 11251597

Title : Dorfman-Chanarin syndrome: a rare neutral lipid storage disease -
Author(s) : Tullu MS , Muranjan MN , Save SU , Deshmukh CT , Khubchandani SR , Bharucha BA
Ref : Indian Pediatr , 37 :88 , 2000
PubMedID: 10745395

Title : [Dorfman-Chanarin syndrome] - Kaassis_1998_Ann.Dermatol.Venereol_125_317
Author(s) : Kaassis C , Ginies JL , Berthelot J , Verret JL
Ref : Ann Dermatol Venereol , 125 :317 , 1998
PubMedID: 9747278

Title : [Dorfman-Chanarin syndrome--a neutral lipid storage disease] - Wollenberg_1997_Hautarzt_48_753
Author(s) : Wollenberg A , Schaller M , Roschinger W , Schirren CG , Wolff H
Ref : Hautarzt , 48 :753 , 1997
PubMedID: 9441170

Title : Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement - Mela_1996_J.Hepatol_25_769
Author(s) : Mela D , Artom A , Goretti R , Varagona G , Riolfo M , Ardoino S , Sanguineti G , Vitali A , Ricciardi S
Ref : Journal of Hepatology , 25 :769 , 1996
PubMedID: 8938558

Title : Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism - Williams_1991_Biochim.Biophys.Acta_1096_162
Author(s) : Williams ML , Coleman RA , Placezk D , Grunfeld C
Ref : Biochimica & Biophysica Acta , 1096 :162 , 1991
PubMedID: 2001430

Title : Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion - Elias_1985_Arch.Dermatol_121_1000
Author(s) : Elias PM , Williams ML
Ref : Arch Dermatol , 121 :1000 , 1985
PubMedID: 4026335

Title : Neutral-lipid storage disease: a new disorder of lipid metabolism -
Author(s) : Chanarin I , Patel A , Slavin G , Wills EJ , Andrews TM , Stewart G
Ref : British Medical Journal , 1 :553 , 1975
PubMedID: 1139147

Title : Ichthyosiform dermatosis with systemic lipidosis -
Author(s) : Dorfman ML , Hershko C , Eisenberg S , Sagher F
Ref : Arch Dermatol , 110 :261 , 1974
PubMedID: 4277517